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rs28942082

From SNPedia

Familal Hypercholesterolemia. A GGC-to-GTC mutation is responsible for this variant (Leitersdorf and Hobbs, 1990).
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
(T;T) 3
ReferenceGRCh38 38.1/141
Chromosome19
Position11116201
GeneLDLR
is asnp
is mentioned by
dbSNPrs28942082
ebirs28942082
HLIrs28942082
Exacrs28942082
Varsomers28942082
Maprs28942082
PheGenIrs28942082
hapmaprs28942082
1000 genomesrs28942082
hgdprs28942082
ensemblrs28942082
gopubmedrs28942082
geneviewrs28942082
scholarrs28942082
googlers28942082
pharmgkbrs28942082
gwascentralrs28942082
openSNPrs28942082
23andMers28942082
23andMe allrs28942082
SNP Nexus

SNPshotrs28942082
SNPdbers28942082
MSV3drs28942082
GWAS Ctlgrs28942082
Max Magnitude4

aka c.1694G>T, p.Gly565Val or G565V; also known as FH Naples

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

OMIM606945
DescFH NAPLES
Variant0014
Relatedalso
Neighborrs28942086
Distance4
ClinVar
Risk rs28942082(T;T)
Alt rs28942082(T;T)
Reference rs28942082(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226877G>C; NC_000019.9:g.11226877G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000211673.2, RCV000003874.5,